Results 121 to 130 of about 1,240 (187)

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous <i>ABCG5</i> variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report. [PDF]

Biomed Rep
Kassaie H, Cheawsamoot C, Kanchanasutthiyakorn S, Santawong K, Chomtho S, Thangpong R, Shotelersuk V.   +6 more
europepmc   +1 more source

Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia. [PDF]

JACC Case Rep
Maidman SD, Gurevitz C, Rosenson RS.
europepmc   +1 more source

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report. [PDF]

Arch Endocrinol Metab
Leão FAA, Silveira LFG, Arantes RR, Guimarães MMM.   +3 more
europepmc   +1 more source

Lipoprotein X: A Cause for Misleading Levels of Low-Density Lipoprotein. [PDF]

JACC Case Rep
Lee R, Baum S, Roman T, Joshi-Guske P, Aggarwal M.   +4 more
europepmc   +1 more source

Phytosterols in human health: Biochemical mechanisms of action and disease-modulating effects. [PDF]

World J Biol Chem
Mohamed D, Ramadan AA, Mabrok HB, Hamed I.   +3 more
europepmc   +1 more source

Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children. [PDF]

Transl Pediatr
Huang S, Du M, Wang X, Liu Y, Song F.
europepmc   +1 more source

Clinical Management of Dyslipidemia in Infants and Toddlers. [PDF]

Curr Atheroscler Rep
Kelley JC.
europepmc   +1 more source

Chapter Five-Sitosterolemia

Chapter Five-Sitosterolemia
Embargo Period 12 months.
openaire  

Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia. [PDF]

Ann Pediatr Endocrinol Metab
Bae GY, Kim I, Sung J, Hwang J, Kim MS, Park JH, Cho SY.   +6 more
europepmc   +1 more source

Noncholesterol Sterols and Sitosterolemia in Clinical Practice

Journal of Atherosclerosis and Thrombosis, 2020
openaire   +3 more sources